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rs760436036

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;T) 5 Familial Hypercholesterolemia
(T;T) 0 common in clinvar


Make rs760436036(A;A)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11120419
GeneLDLR
is asnp
is mentioned by
dbSNPrs760436036
dbSNP (classic)rs760436036
ClinGenrs760436036
ebirs760436036
HLIrs760436036
Exacrs760436036
Gnomadrs760436036
Varsomers760436036
LitVarrs760436036
Maprs760436036
PheGenIrs760436036
Biobankrs760436036
1000 genomesrs760436036
hgdprs760436036
ensemblrs760436036
geneviewrs760436036
scholarrs760436036
googlers760436036
pharmgkbrs760436036
gwascentralrs760436036
openSNPrs760436036
23andMers760436036
SNPshotrs760436036
SNPdbers760436036
MSV3drs760436036
GWAS Ctlgrs760436036
Max Magnitude5
ClinVar
Risk rs760436036(A;A) rs760436036(C;C)
Alt rs760436036(A;A) rs760436036(C;C)
Reference Rs760436036(T;T)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11231095T>A
CLNSRC LDLR @ LOVD
CLNACC RCV000238543.1,